Congenital Disorders Study

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Congenital Disorders Study

Children with suspected genetic disorders that have not been definitively diagnosed through clinical testing are eligible to enroll in this study.

Congenital Disorders Study at ITMI: Why participate

We perform whole genome sequencing to look for genetic variants that may cause the patient's medical problems. We may also perform functional studies or more specific analyses in some cases. We may or may not find the cause of your child’s condition, and it may take many years. You are contributing to scientific progress in genomic medicine. It is possible we may identify a novel gene or gene change, or diagnose an extremely rare condition not previously considered. If we do find clinically relevant results, we will return them to you or your physician.

Congenital Disorders Study at ITMI: Who is eligible

You and your family can participate if:

  • Your child has a birth defect or medical condition with a suspected genetic cause
  • Your child has had previous testing that did not provide a definitive diagnosis
  • At least one biological parent is also available to provide a sample; two parents is strongly preferred.

Congenital Disorders Study at ITMI: What will happen if I enroll

Participation involves the following:

  • Blood samples from parents and the baby: Blood draws may be done in the hospital while an inpatient, or later, in the ITMI clinic.
  • Saliva samples: Family members will provide a small saliva sample by spitting into a tube.
  • You will be asked to sign a consent form and complete a questionnaire.

What will happen next?

  • You may be asked to provide additional medical records or provide updates on your child's health.
  • If we are able to identify clinically relevant results, we will return them to you.
  • A genetic counselor or geneticist will help you and your doctors understand this information and what it means for your baby's healthcare, including recommended follow-up.
  • Research findings based on whole genome sequencing are verified in a CLIA-certified laboratory.

There is no cost to participate.

Join the Congenital Disorders Study at ITMI

To learn more about this study or inquire about enrolling, contact Julie Muskett, MS, CGC, Research Coordinator, at 703-776-6137, or Principal Investigator, Natalie Hauser, MD, at 703-776-8199.